Varaico: Literature-Extracted Genetic Variants

RABGEF1

298 papers

RefSeq Summary

RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 1...

Pfam Domains

zf-A20aa 17–40UCSCA20-like zinc finger

DUF5601aa 158–220UCSCDomain of unknown function (DUF5601)

VPS9aa 268–371UCSCVacuolar sorting protein 9 (VPS9) domain

Gene Aliases

HGNC Name

RAB guanine nucleotide exchange factor 1

HGNC Alias Symbols

rabex-5; RABEX5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014504.3

p.D314A

c.941A>C

Surrounding Variants

2 papers

NM_014504.3

p.D313A

c.938A>C

1 paper

NM_014504.3

p.A312V

c.935C>T

1 paper

NM_014504.3

p.S311A

c.931T>G

1 paper

NM_014504.3

p.A310_S311insFs

c.930_931insT

1 paper

NM_014504.3

p.E308A

c.923A>C

1 paper

NM_014504.3

p.K306M

c.917A>T

1 paper

NM_014504.3

p.K306Q

c.916A>C

1 paper

NM_014504.3

p.L324V

c.970T>G

1 paper

NM_014504.3

p.K296M

c.887A>T

1 paper

NM_014504.3

p.F341L

c.1023C>A

1 paper

NM_014504.3

p.M278L

c.832A>T

1 paper

NM_014504.3

p.E277D

c.831A>C